Mitochondriale Erkrankungen

Alpers-Syndrom (POLG) (1 Gene)

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Analgesie, angeborene Schmerzunempfindlichkeit, ID 753.00 (3 Gene)

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Chronisch Progressive Externe Ophthalmoplegie (CPEO), autosomal dominant, ID 253.01 (7 Gene)

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Chronisch Progressive Externe Ophthalmoplegie (CPEO), autosomal rezessiv, ID 254.00 (11 Gene)

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CoQ10-Defizienz, ID 054.02 (14 Gene)

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CPEO , mitochondrial - mtDNA Deletion/en (1 Gene)

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CPEO und Phänokopien, ID 255.00 (35 Gene)

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Enzephalopathien (mitochondrial/epileptisch), ID 265.02 (462 Gene)

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Kardiomyopathie, mitochondrial, ID 074.01 (12 Gene)

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Kearns-Sayre-Syndrom (mt-Deletion/en) (1 Gene)

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Leigh-Syndrom - Basisdiagnostik nukleäre Gendefekte, ID 266.01 (11 Gene)

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Leigh/NARP MT-ATP6 m.8993T>C/G (1 Gene)

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LHON (Stufe 1: primäre 3 pathogene mtDNA-Mutationen) (1 Gene)

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MELAS, MT-TL1 (1 Gene)

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MERRF, MT-TK (1 Gene)

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Mitochondriale Hepato(Enzephalopathie) - Basisdiagnostik, ID 264.01 (11 Gene)

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Mitochondriale Myopathie (Erwachsenenalter), ID 752.00 (14 Gene)

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Mitochondriale Myopathie, nukleäre Gendefekte, ID 069.02 (36 Gene)

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Mitochondriales Genom - komplett, ID 699.00 (37 Gene)

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Mitochondriopathien - Gesamtpanel, ID 087.04 (243 Gene)

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mtDNA-Deletionen (1 Gene)

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Pearson/CPEO/KSS, mtDNA-Deletion/en (1 Gene)

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